DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: TGFB1 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs1800472	TGFB1	0.752	0.360	19	41341955	missense variant	G/A	snv	2.6E-02	2.3E-02	11
rs4803455	TGFB1	0.752	0.280	19	41345604	intron variant	C/A	snv		0.51	11
rs11466353	TGFB1	0.851	0.160	19	41333933	intron variant	G/T	snv		4.3E-02	4
rs2241715	TGFB1	0.851	0.120	19	41350981	5 prime UTR variant	A/C	snv		0.68	4
rs1800468	TGFB1 ; B9D2	0.851	0.160	19	41354682	3 prime UTR variant	C/T	snv	6.2E-02	5.9E-02	4
rs2241718	TGFB1 ; CCDC97	0.882	0.040	19	41323701	3 prime UTR variant	G/A	snv		0.15	4
rs1017621656	TGFB1	0.925	0.080	19	41352923	missense variant	A/C;G	snv	1.9E-05		3
rs200482214	TGFB1	0.882	0.200	19	41348345	missense variant	G/A	snv		2.8E-05	3
rs201567874	TGFB1	1.000	0.080	19	41348412	missense variant	C/T	snv	6.8E-05	5.6E-05	3
rs75621460	TGFB1	0.882	0.040	19	41327879	intron variant	G/A	snv		2.0E-02	3
rs767685429	TGFB1	0.882	0.120	19	41332206	missense variant	G/A;C	snv	2.8E-05; 8.0E-06		3
rs750436680	B9D2 ; TGFB1	0.925	0.160	19	41354765	missense variant	C/T	snv	4.0E-06		2
rs11881940	HNRNPUL1 ; TGFB1	0.925	0.040	19	41302527	non coding transcript exon variant	A/C;G;T	snv	4.9E-06; 4.9E-06; 0.14		2
rs11466345	TGFB1	1.000	0.080	19	41337556	intron variant	T/C	snv		0.12	2
rs1336387628	TGFB1	1.000		19	41331066	missense variant	A/C;G;T	snv			2
rs1555755242	TGFB1	1.000		19	41352717	missense variant	G/A	snv			2
rs1555755308	TGFB1	1.000		19	41352912	missense variant	G/A	snv			2
rs2241716	TGFB1	1.000	0.080	19	41348181	intron variant	C/T	snv		4.0E-02	2
rs1487082103	TGFB1 ; B9D2	0.925	0.320	19	41354927	missense variant	T/G	snv	8.2E-06		2
rs863225150	TGFB1 ; B9D2	0.925	0.160	19	41355008	missense variant	G/A	snv			2
rs4803457	B9D2 ; TGFB1	1.000	0.120	19	41355454	intron variant	T/C	snv		0.59	1